HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114709717T>A , CM000663.2:g.114709717T>A | GRCh38 |
NC_000001.10:g.115252338T>A , CM000663.1:g.115252338T>A | GRCh37 |
NC_000001.9:g.115053861T>A | NCBI36 |
NG_007572.1:g.12178A>T , LRG_92:g.12178A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.302A>T MANE Select | ENSP00000358548.4:p.Lys101Met | |
ENST00000369535.4:c.302A>T | ENSP00000358548.4:p.Lys101Met | |
NM_002524.4:c.302A>T | NP_002515.1:p.Lys101Met | |
NM_002524.5:c.302A>T MANE Select | NP_002515.1:p.Lys101Met |